ClinVar Miner

List of variants studied for Aarskog-Scott syndrome, X-linked by Center for Human Genetics, Inc, Center for Human Genetics, Inc

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) rs1557189266
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) rs1557188567
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) rs1557188473
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058

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